Bioinformatics analysis from raw data to disease driver variants

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2.2 years ago

mathewarkit • 0

Hi!

I have a doubt! Which bioinformatics analysis would you perform to prioritise disease driver variants from raw sequencing data? Along with computational methods, file formats, quality measures, controls, annotation and statistics to assign genomic disease?

I have been asked for it and I can't find any proper literature to answer it

Thanks!

disease-driver variants • 800 views

ADD COMMENT • link updated 2.1 years ago by Ram 44k • written 2.2 years ago by mathewarkit • 0

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map those raw sequencing data to a reference genome, extract the variants, filter the variants according to the studied disease.

ADD REPLY • link 2.2 years ago by Pierre Lindenbaum 164k

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I have no doubt. Just google "variant prioritization".

ADD REPLY • link 2.2 years ago by Jeremy Leipzig 22k

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Thank you! I will google it right now!

ADD REPLY • link 2.2 years ago by mathewarkit • 0

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Search for GATK Best Practices

ADD REPLY • link 2.2 years ago by brunobsouzaa ▴ 840

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